S a f d ar Iq b a

. l s
Dr
M R C P C H P art II

P ra ctice E x a m s
P h o t o g r a p h i c M a t e r ia l
D a t a I n t e r p r e t a t io n
G re y C a s e s

P a e d i a tr i c E x a m S e r i e s
 GREY CASES
CASE 1
A 30 hour old newborn is brought up to the Neonatal Unit after having a couple of episodes of
abnormal movements. The midwife was trying to feed the baby when she noticed that the infant
suddenly started jerking the upper limbs and seemed quite vacant. This continued for 1 min. and
then as she called for help, it happened again for a further 1 min. On arrival to the unit, the infant
seemed awake and responsive; the temperature was 36.7 C; the pulse rate 120/min, RR 30/min,
BP 60/40; the SpO2 was 100% in air. Just as the nurse was strapping the ECG leads on him, he
started having a fit involving the right side of his upper limbs with lip smacking movements.
1. What two steps are necessary at this stage?
He was born to a 23 year old primigravida by Em LSCS for foetal distress; in the first stage of
labour, there were type II decelerations with poor variability and a decision was taken to deliver
him. The cord pH was 7.14 and there was copious thick meconium at delivery. He was intubated
straightaway and tracheal suction was done. After suction, the ETT was removed and he was
breathing on his own. Apgars were recorded as 4 @ 1 min., 7 @ 5 min. He was transferred to the
ward with his mother and was kept under observation there. His mother tried to breastfeed him
and did not have any luck - he kept going to sleep and he had to be bottlefed. This was also
difficult and the midwives commented that "he seemed such a quiet baby".
His mother was married to a 24 year old carpenter and was medically fit. Her periconceptional
period was uneventful. She did however remember earlier episodes of severe pain and discharge
in her genital area for which her GP had given her some pessaries. The pregnancy had been
normal until 38 weeks when she was noticed to be hypertensive and admitted to the ward. She
went into spontaneous labour soon after and delivered him within 8 hours.
2. Name three possible causes for the seizures.
3. What steps are necessary after the initial stabilisation done in q1.

CASE 2
One month after a bone marrow transplant for AML, a 6 year old girl started having frequent
episodes of loose stool up to 8/day, each time passing around 100 ml of stool volume. These
were initially brownish and offensive but turned greenish and watery as it got worse. This was
associated with vomiting 2-3 times a day. For the past 3 days she was also febrile and unwell,
refused to eat or drink anything and complained of abdominal pain centered around her
umbilicus and right side. She also had a skin rash over her trunk and arms which spread to
involve the entire body with macular spots. Her BMT was done in her first remission after an
intensive course of chemotherapy and consisted of conditioning with busulphan and
cyclophosphamide. The procedure had gone off smoothly and she started having evidence of
engraftment in the form of increasing neutrophils by the 10th day of the BMT. She was on
various medications including cyclosporine, aciclovir, nebulised pentamidine, Ceftazidime and
Amikacin for the past 3 days for the fever, oral KCl, Fluconazole and paracetamol. She had
numerous blood and platelet transfusions including a recent one.
Results of investigations showed:
Hb 8.9, WCC 1.2 neut 0.7, Plt 46. Na 135, K 3.2, Urea 10.3, Creatinine 80, Albumin 34, ALP
354, AST 90, Bil 120 conjugated 79.
Bacterial stool culture: negative.
Hepatitis serology: Hep A neg, B neg, C neg.
CMV status: seronegative prior to BMT.
1. What further tests are needed to make a diagnosis?
2. What is the most likely diagnosis?
3. What is the further management of this condition?

CASE 3
A 15 year old girl is seen with recurrent and severe headaches for the last 2 months. These started
quite gradually and worsened with time, at the time of presentation being so severe as to prevent
her from going to school for many days. They were mainly bifrontal but sometimes radiated to
the temporal areas. No nausea or vomiting accompanied the headaches, there were no visual
symptoms at the time of the headache although she complained of some difficulty in focussing
and kept bumping into things in the last month or so. She had a good appetite and was not losing
weight.
Her past medical history was marked by recurrent abdominal pain when she was 7 lasting for
about two years for which no specific cause was found and she was discharged from follow-up
after that. Her birth history was normal, she had a normal infancy, had all the immunisations on
time and had chickenpox at the age of 6. She was at school where there were some problems
with her teachers and she said that she had been happier when she was off school with the
headaches than at school. This seemed related to her teachers' objections to her "rebellious"
attitude and inability to follow instructions. Her mother had been called many times to the
Parent-Teacher meetings and had bad reports on her conduct at school. At home, however, she
seemed quite content to mix with her 10 year old brother. Her parents went to work full-time and
were both medically fit. She attained menarche at the age of 12 and had regular periods till 6
months ago, when she stopped menstruating completely. Her worried mother had done a
pregnancy test at the time after she found out that the girl was sexually active and it was
negative.
1. What are the possible causes for the headaches?
2. What one diagnosis could explain all the features?

CASE 4
A 3 year old boy was brought to Casualty unconscious. His parents had gone to wake him up in
the morning and found him collapsed in bed, unresponsive and very pale. He had had a mild
fever the previous night and had gone to bed after having some paracetamol. His 5 year old sister
had a cold and a runny nose, so the parents had assumed that he had also started having one.
They did not report any vomiting or diarrhoea, there was no rash on his body and he seemed
quite cool to touch when he was seen.
He was born at 38 weeks gestation following a Caesarian section for foetal distress and weighed
3.4 kg. The pregnancy had been complicated by hypertension on and off and gestational diabetes.
The scans had been normal and when his mother went into spontaneous labour at 38 weeks, her
cardiotocograph tracing started showing late dips. He was bottle fed for the first 12 hours at
which time he was noticed to be jittery and had a blood sugar done, which was 2.1. He was then
transferred to the Neonatal Unit and stayed there for 24 hours, during which time he had an
intravenous dextrose infusion. His hypoglycaemia corrected quickly and he was discharged
home bottlefed. He did not have any specific problems after that and had always been a healthy
boy. His immunisations were up to date, his development seemed appropriate, there was no
family history of any genetic disorders and his parents were healthy.
Investigations included:
Hb 12.4, WCC 10.6 neutrophils 6.5, Plt 235. Na 134, K 3.5, Urea 7.6, Creatinine 78. Alb 36,
Bilirubin 7, AST 34, ALP 232, gamma GT 45.
Urine dipstik showed trace protein, 3+ketones, no glucose.
Blood sugar: 1.4. Blood ammonia 45, lactate 2.3. Serum Ca 2.4, Mg 0.78.
CT scan of brain normal.
1. What is the most likely diagnosis?
2. What is the immediate and further management of this condition?

CASE 5
On admission at 8 weeks, a baby had gained only around 600 gms from birth (B wt = 3.5, now
4.1 kg). The child had been vomiting since the last 3 weeks on and off and that seemed to get
more forceful in the last couple of weeks. This happened following most feeds. Bowel motions
were normal and there was no abdominal distension. Born following a normal delivery, the infant
had gone home bottlefed on day 2. The postnatal check was normal and the baby had just had the
first dose of HiB, DPT and OPV at the GP surgery. He was smiling, fixating and following
objects around. His 3 year old sister was normal and so were his parents.
On examination, his weight was 4.1 kg, HC 38 cm. He was not dehydrated. His abdomen was
soft and hernial orifices were normal.
1. What is the differential diagnosis?
2. What investigations will be needed to clarify the diagnosis?

ANSWERS
1. As in any emergency, pay attention to ABC first. A blood sugar is essential at this stage.
Bloods for Ca, Mg and blood cultures are needed less urgently than the above two choices. Also
nasogastric clearance of the stomach is necessary to prevent aspiration. The differential of
neonatal seizures is wide and includes hypoxia, hypoglycaemia, hypocalcaemia,
hypomagnesaemia, sepsis and meningitis, an AV malformation, intracranial haemorrhage and a
metabolic disorder in that order. The subsequent steps include anticonvulsants (phenobarbitone)
if fits continue, antibiotics for empirical therapy for sepsis, cranial ultrasound, a metabolic screen
and possibly further brain imaging later on.
2. Further tests are needed to disprove other diagnoses like a CMV colitis, Clostridium difficile
colitis, drug reaction etc. The diagnosis is most likely an acute GVH disease. By definition, it
occurs before 100 days after a BMT and presents with involvement of the gut, skin, liver and
bone marrow. The characteristic features include a macular skin rash which may become severe
enough to cause erythroderma or exfoliation, diarrhoea upto 500-1500 ml/24 hr and more, raised
serum bilirubin and liver enzymes. Cyclosporine is given post transplant to prevent the risk of
GVH for around 6 months to a year. Treatment of acute GVH is mainly with steroids - iv or oral,
or the use of AntiThymocyte globulin. Chronic GVH on the other hand presents usually after 3
months with Sjogren's syndrome, SLE, scleroderma or primary biliary cirrhosis. Treatment is
with azathioprine or thalidomide (!).
3. The most likely cause for the headaches seems psychological, although migraine, tension
headaches and some intracranial pathology cannot be ruled out. However, notice that with that
diagnosis you cannot explain the secondary amenorrhoea and also the apparent stumbling she is
currently having. An intracranial pathology seems more likely then. A prolactinoma would
explain all the features. These are common in adults, although adolescents can have them in
which case they are microadenomas in the pituitary gland. Bromocriptine may be initially tried.
Surgery is another option.
4. The hypoglycaemia and the ketosis suggest ketotic hypoglycaemia - the commonest cause of
hypoglycaemia in childhood. The exact pathogenetic pathways are not clear, but there is
difficulty in maintaining blood sugar levels with fasting and ketones are produced as alternative
fuel sources. The mild illness and the lack of food intake is a clear precipitant factor and
treatment with intravenous glucose is needed. Long term, these children need to be on a high
protein and carbohydrate diet and avoid fasting. Usually, the condition resolves by the age of 10.
Neonatal hypoglycaemia may be a clue to the diagnosis in childhood.
5. The differential includes a pyloric stenosis and gastro-oesophageal reflux with weight loss. An
ultrasound scan would identify a pyloric mass and a pH probe analysis would identify acid reflux
in the oesophagus. A barium meal may be needed sometimes in times of doubt.